Variant report

Variant	rs144898223
Chromosome Location	chr16:12072017-12072018
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr16:12069635-12072270	IMR90	lung:	n/a	chr16:12070760-12070770
2	MTA3	chr16:12071683-12072512	GM12878	blood:	n/a	n/a
3	WRNIP1	chr16:12070864-12072578	GM12878	blood:	n/a	n/a
4	POLR2A	chr16:12069293-12072542	GM12891	blood:	n/a	n/a
5	POLR2A	chr16:12071954-12072527	GM12878	blood:	n/a	n/a
6	ELK1	chr16:12071980-12072225	GM12878	blood:	n/a	n/a
7	TBL1XR1	chr16:12071822-12072529	GM12878	blood:	n/a	n/a
8	MXI1	chr16:12069562-12072323	SK-N-SH	brain:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:12006809..12011472-chr16:12069677..12072698,7	MCF-7	breast:
2	chr16:12071974..12074044-chr16:12076209..12078195,2	K562	blood:
3	chr16:12070324..12072776-chr16:12897424..12899893,2	K562	blood:
4	chr16:12058363..12061770-chr16:12069205..12072370,4	MCF-7	breast:
5	chr16:12069629..12072468-chr16:12173207..12175470,2	MCF-7	breast:
6	chr16:12068621..12072204-chr16:12129850..12134239,5	MCF-7	breast:
7	chr16:12006532..12011371-chr16:12068460..12073371,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000260488	TF binding region
ENSG00000234719	TF binding region
ENSG00000048471	Chromatin interaction
ENSG00000266163	Chromatin interaction
ENSG00000103342	Chromatin interaction
ENSG00000103381	Chromatin interaction
ENSG00000048462	Chromatin interaction
ENSG00000241641	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042660	chr16:11846873-12110435	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv571458	chr16:11925008-12087282	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv905347	chr16:12010444-12243329	Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv1043096	chr16:12013915-12840769	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv482458	chr16:12014925-12145977	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv1043959	chr16:12039346-12285269	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv527197	chr16:12071341-12073800	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv974757	chr16:12071576-12072076	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12069400-12072200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr16:12069600-12072600	Active TSS	Fetal Kidney	kidney
3	chr16:12070000-12072400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr16:12070200-12072200	Active TSS	GM12878-XiMat	blood
5	chr16:12070200-12072400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr16:12070400-12072200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr16:12070800-12072200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr16:12070800-12072400	Flanking Active TSS	Stomach Smooth Muscle	stomach
9	chr16:12070800-12072600	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr16:12071000-12072600	Flanking Active TSS	Primary B cells from peripheral blood	blood
11	chr16:12071200-12072200	Flanking Active TSS	Brain Hippocampus Middle	brain
12	chr16:12071400-12072200	Enhancers	Primary T cells fromperipheralblood	blood
13	chr16:12071400-12072200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr16:12071400-12072200	Enhancers	Fetal Brain Male	brain
15	chr16:12071400-12072200	Enhancers	Stomach Mucosa	stomach
16	chr16:12071400-12072400	Enhancers	Placenta Amnion	Placenta Amnion
17	chr16:12071400-12130800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr16:12071600-12072200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr16:12071600-12072200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr16:12071600-12072200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr16:12071600-12072200	Enhancers	Liver	Liver
22	chr16:12071600-12072200	Enhancers	Right Ventricle	heart
23	chr16:12071600-12072400	Enhancers	Placenta	Placenta
24	chr16:12071600-12072600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr16:12071600-12072600	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr16:12071600-12072600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr16:12071600-12072600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr16:12071600-12072600	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr16:12071600-12072800	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr16:12071600-12083200	Weak transcription	Left Ventricle	heart
31	chr16:12071800-12072200	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr16:12071800-12072200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr16:12071800-12072200	Flanking Active TSS	Colon Smooth Muscle	Colon
34	chr16:12071800-12072200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr16:12071800-12072200	Enhancers	Fetal Muscle Trunk	muscle
36	chr16:12071800-12072200	Enhancers	Fetal Muscle Leg	muscle
37	chr16:12071800-12072200	Enhancers	Fetal Thymus	thymus
38	chr16:12071800-12072200	Enhancers	Thymus	Thymus
39	chr16:12071800-12072200	Flanking Active TSS	HepG2	liver
40	chr16:12071800-12072200	Enhancers	HSMM	muscle
41	chr16:12071800-12072200	Enhancers	HUVEC	blood vessel
42	chr16:12071800-12072200	Enhancers	NH-A	brain
43	chr16:12071800-12072200	Flanking Active TSS	NHLF	lung
44	chr16:12071800-12072200	Flanking Active TSS	Osteobl	bone
45	chr16:12071800-12072400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr16:12071800-12072400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr16:12071800-12072400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr16:12071800-12072400	Enhancers	Brain Angular Gyrus	brain
49	chr16:12071800-12072600	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr16:12071800-12072600	Enhancers	Brain Anterior Caudate	brain

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